Holoprosencephaly with premaxillary agenesis in a prehistoric skull
- Correspondence to Harry Pachajoa, Universidad Icesi, Calle 18 No. 122-135, bloque L, quinto piso, Cali 760014, Colombia;
Contributors All authors have signed this letter as confirmation that they have read and approved the paper, have met the criteria for authorship as established by the International Committee of Medical Journals Editors, believe that the paper represents honest work, and are able to verify the validity of the results reported.
- Received 30 March 2012
- Accepted 10 May 2012
Holoprosencephaly (HPE) is a severe condition that results from failed or incomplete forebrain cleavage early in gestation.1 The classification proposed by DeMyer is widely used, which includes alobar, semilobar and lobar HPE depending on the degree of the midline deficiencies of the telencephalon.2 Facial anomalies associated with HPE are usually classified as cyclopia, ethmocephaly, cebocephaly, premaxillary agenesis with median cleft lip and less severe manifestations.3⇓⇓
We present a 1500-year-old skull of a 5-year-old child (ossification and tooth eruption), who presented a premaxillary agenesis and ocular hypotelorism suggesting the diagnosis of semilobar HPE. The presentation of HPE has been extensively studied by Cohen (2009). He describes cyclopia as the main manifestation.4 Although the presence of HPE and premaxillary agenesis has been reported, this case corresponds to the Lima culture, a pre-Inca culture that developed in the central coast of Peru (between A.D. 100 to A.D. 650).
In our case it was not possible to determine the aetiology, considering that it was an indigenous community that inhabited Peru 1500 years ago. Different representations of human malformations in community-made ceramics South American Pacific coast with ornaments and costumes of the elite, suggest that people with congenital malformations had some preferential management in these communities.5
Patricia Maita, Museo Nacional de Arqueología, Antropología e Historia del Perú.
Funding Universidad Icesi.
Competing interests None.
Provenance and peer review Not commissioned; externally peer reviewed.